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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Nature genetics, 2000-02, Vol.24 (2), p.167-170

2000

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Prader-Willi-like phenotype in fragile X syndrome

Clinical genetics, 1994-04, Vol.45 (4), p.175-180

1994

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On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association

Clinical genetics, 1995-09, Vol.48 (3), p.131-133

1995

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The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children

Clinical genetics, 1995-10, Vol.48 (4), p.177-182

1995

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Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida

Prenatal diagnosis, 1994-08, Vol.14 (8), p.770-776

1994

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Prenatal diagnosis and long survival of Fryns syndrome

Prenatal diagnosis, 1995-01, Vol.15 (1), p.97-98

Fryns, Jean-Pierre

1995

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Late-onset isolated cystic hygroma. A first clinical sign of proteus syndrome

Prenatal diagnosis, 1995-01, Vol.15 (1), p.96-97

Fryns, Jean-Pierre

1995

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Velocardiofacial syndrome (VCFS): An important syndrome to recognize, caused by a microdeletion of chromosome 22q11

Journal of applied genetics, 1997-01, Vol.38 (1), p.87-102

1997

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The KBG syndrome: follow-up data on three affected brothers

Clinical genetics, 1994-10, Vol.46 (4), p.283-286

1994

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The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia

Clinical genetics, 1994-06, Vol.45 (6), p.330-331

1994

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Marden-Walker syndrome: case report, literature review and nosologic discussion

Clinical genetics, 1993-06, Vol.43 (6), p.303-308

1993

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Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14)

Clinical genetics, 1994-10, Vol.46 (4), p.304-308

1994

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Autism and ring chromosome 18 mosaicism

Clinical genetics, 1992-07, Vol.42 (1), p.55-55

1992

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Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance

Clinical genetics, 1993-05, Vol.43 (5), p.270-270

1993

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Reply to Dr. Lin

Clinical genetics, 1992-04, Vol.41 (4), p.223-223

1992

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On the nosology of the Cornelia de Lange and Coffin-Siris syndromes

Clinical genetics, 1986-03, Vol.29 (3), p.263-264

Fryns, Jean-Pierre

1986

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Autosomal whole arm translocations in man. A patient with t(5p7p; 5q7q) type rearrangement and review of the literature

Clinical genetics, 1986-07, Vol.30 (1), p.72-75

1986

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Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture

American journal of medical genetics, 1988-05, Vol.30 (1-2), p.355-368

1988

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

American journal of human genetics, 2005-09, Vol.77 (3), p.442-453

2005

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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

American journal of human genetics, 2003-06, Vol.72 (6), p.1470-1478

2003

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Nature genetics, 1999-01, Vol.21 (1), p.142-144

1999

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

American journal of human genetics, 2004-03, Vol.74 (3), p.552-557

2004

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GATA3 haplo-insufficiency causes human HDR syndrome

Nature (London), 2000-07, Vol.406 (6794), p.419-422

2000

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Prader-Willi-like phenotype in fragile X syndrome

On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association

The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children

Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida

Prenatal diagnosis and long survival of Fryns syndrome

Late-onset isolated cystic hygroma. A first clinical sign of proteus syndrome

Velocardiofacial syndrome (VCFS): An important syndrome to recognize, caused by a microdeletion of chromosome 22q11

The KBG syndrome: follow-up data on three affected brothers

The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia

Marden-Walker syndrome: case report, literature review and nosologic discussion

Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14)

Autism and ring chromosome 18 mosaicism

Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance

Reply to Dr. Lin

On the nosology of the Cornelia de Lange and Coffin-Siris syndromes

Autosomal whole arm translocations in man. A patient with t(5p7p; 5q7q) type rearrangement and review of the literature

Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

GATA3 haplo-insufficiency causes human HDR syndrome

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

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